Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies (Q35046733)

24907562

6 August 2017

title

Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies (English)

1 reference

6 August 2017

1

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Camilla Pellegrini

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Stefano Squarzoni

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Luciano Merlini

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Spartaco Santi

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Patrizia Sabatelli

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author name string

F Sardone

3

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M Paulsson

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R Wagener

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F Gualandi

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C Trabanelli

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A Ferlini

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N M Maraldi

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C Faldini

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language of work or name

English

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publication date

5 June 2014

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24907562

Biochimica et Biophysica Acta

6 August 2017

published in

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volume

1842

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7 June 2020

issue

9

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7 June 2020

page(s)

1604-1612

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A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16

7 June 2020

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Three novel collagen VI chains, alpha4(VI), alpha5(VI), and alpha6(VI)

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Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis

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Collagen VI related muscle disorders

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Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy.

8 July 2018

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Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy

8 July 2018

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Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy

8 July 2018

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Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

8 July 2018

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A new twist in the collagen story--the type VI segmented supercoil

8 July 2018

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Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy

8 July 2018

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Microfibril-associated glycoprotein-1 (MAGP-1) binds to the pepsin-resistant domain of the alpha3(VI) chain of type VI collagen

8 July 2018

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Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures

8 July 2018

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Primary mouse myoblast purification, characterization, and transplantation for cell-mediated gene therapy

8 July 2018

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Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen type VI

8 July 2018

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Beaded filaments and long-spacing fibrils: Relation to type VI collagen

8 July 2018

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8 July 2018

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Amino acid sequence of the triple-helical domain of human collagen type VI

8 July 2018

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Binding of the proteoglycan decorin to collagen type VI

8 July 2018

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8 July 2018

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Differential and restricted expression of novel collagen VI chains in mouse.

25 October 2018

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Expression of the collagen VI α5 and α6 chains in normal human skin and in skin of patients with collagen VI-related myopathies

25 October 2018

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The knee osteoarthritis susceptibility locus DVWA on chromosome 3p24.3 is the 5' part of the split COL6A4 gene.

25 October 2018

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Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy.

25 October 2018

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Autosomal recessive myosclerosis myopathy is a collagen VI disorder

25 October 2018

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Three novel collagen VI chains with high homology to the alpha3 chain

25 October 2018

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Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

25 October 2018

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Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domains

25 October 2018

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Pathological characteristics of skeletal muscle in Ullrich's disease with collagen VI deficiency.

25 October 2018

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Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy.

25 October 2018

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Structural and functional features of the alpha 3 chain indicate a bridging role for chicken collagen VI in connective tissues

25 October 2018

1 reference

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Molecular consequences of dominant Bethlem myopathy collagen VI mutations

25 October 2018

1 reference

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Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy

25 October 2018

1 reference

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Autophagy is defective in collagen VI muscular dystrophies and its reactivation rescues myofiber degeneration

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4316388

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

9 December 2018

1 reference

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Effects on Collagen VI mRNA Stability and Microfibrillar Assembly of ThreeCOL6A2Mutations in Two Families with Ullrich Congenital Muscular Dystrophy

9 December 2018

1 reference

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Transforming growth factor-β1 and fibrosis in congenital muscular dystrophies

9 December 2018

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12 December 2020

Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations

1 reference

12 December 2020

Biosynthesis of chick type VI collagen. I. Intracellular assembly and molecular structure

1 reference

12 December 2020

Structure and stability of the triple-helical domains of human collagen XIV

1 reference

12 December 2020

Bethlem myopathy: Early-onset benign autosomal dominant myopathy with contractures. Description of two new families

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12 December 2020

Autophagy eliminates a specific species of misfolded procollagen and plays a protective role in cell survival against ER stress

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12 December 2020

10.1016/J.BBADIS.2014.05.033

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